* The goal of the app is to study genetic causes of rare and chronic diseases.
* The first disease to be studied will be heart disease.
* The pilot study is in conjunction with the American Heart Association's Scientific Sessions.
* The research will also pursue a hypothesis test and data sharing surrounding limitations of highly targeted screening strategies in familial hypercholesterolemia.
* Patients who have genetic testing through Invitae can enroll in the study via the Invitae Discover app.
"The creation of the Invitae Discover platform will make it easier to conduct studies that assess genetic test results alongside the biometric data that is now easily available on Apple Watch, thereby joining basic electrophysiological data with genetic information in order to advance our understanding of the genetic underpinnings of disease and help improve clinical care," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Our first study on the platform is designed to determine the contribution of certain genetic variants to clinical presentations of atrial fibrillation and other cardiovascular conditions associated with abnormal heart rhythms, as well as to improve the interpretation of genetic testing results."
The first study on Invitae Discover is the Afib CAUSE Study. Patients who have genetic testing through Invitae can enroll in the study via the Invitae Discover app. The study will combine health and activity data from Apple HealthKit with clinical genetic testing results. In addition to assessing known genetic variants, the study will specifically evaluate biometric data for patients whose genetic testing included variants of uncertain significance (VUS) to help build preliminary data that improves variant classification and, ultimately, provide evidence to support resolution. The Invitae Discover app is available on the Apple app store. The Afib CAUSE study is open to U.S. residents 18 years of age and older and enrollment criteria can be accessed through the Invitae Discover app.
The study will be conducted under the supervision of an Institutional Review Board (IRB). As a medical genetics company, Invitae is subject to and fully complies with the privacy and security requirements under HIPAA for all its patients.
Separately at the AHA Scientific Sessions, Invitae researchers will be participating in a moderated poster session at the AHA meeting to discuss research quantifying the low diagnostic yield of highly targeted, direct-to-consumer genetic screening strategies in familial hypercholesterolemia. The study will be presented on November 17th during the Cardiovascular Genomic Medicine session at 2:20pm.